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NM_000251.3(MSH2):c.942+25_942+29del AND Hereditary cancer-predisposing syndrome

Germline classification:
Benign (2 submissions)
Last evaluated:
May 11, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002255344.3

Allele description [Variation Report for NM_000251.3(MSH2):c.942+25_942+29del]

NM_000251.3(MSH2):c.942+25_942+29del

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.942+25_942+29del
HGVS:
  • NC_000002.11:g.47641560_47641564del
  • NC_000002.12:g.47414443_47414447del
  • NG_007110.2:g.16320_16324del
  • NM_000251.3:c.942+25_942+29delMANE SELECT
  • NM_001258281.1:c.744+25_744+29del
  • LRG_218t1:c.942+11_942+15del
  • LRG_218:g.16320_16324del
  • NC_000002.11:g.47641560_47641564del
  • NC_000002.11:g.47641560_47641564delAAAAA
  • NC_000002.11:g.47641582_47641586del
  • NM_000251.2:c.942+11_942+15delAAAAA
  • NM_000251.2:c.942+3_942+7del
  • NM_000251.2:c.942+3_942+7delAAAAA
  • NM_000251.3:c.942+25_942+29delAAAAAMANE SELECT
Links:
dbSNP: rs11309117
NCBI 1000 Genomes Browser:
rs11309117
Molecular consequence:
  • NM_000251.3:c.942+25_942+29del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258281.1:c.744+25_744+29del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002526763Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Benign
(Sep 16, 2021) 		germlinecuration

Citation Link,

SCV002819200Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(May 11, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing, curation

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Sema4, Sema4, SCV002526763.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C., SCV002819200.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024